Polycystic Kidney Disease:
Characterized by multiple, bilateral, grape-like clusters of fluid filled
cysts that grossly enlarge the kidneys, compressing and eventually replacing
functioning renal tissue. This disorder is inherited. It appears
in two distinct forms. The infantile form causes stillbirth or early
neonatal death. Infants with this disease may survive for 2 years
and then develop fatal renal, congestive heart, or respiratory failure.
Onset of the adult form is insidious but commonly becomes obvious between
ages 30 and 50. Rarely, polycystic kidney disease doesn’t cause symptoms
during an individual’s life-time, and may only be found during autopsy.
Renal deterioration in the adult form of this disorder is slower than in
the infantile form, but often leads to renal failure.
Cause: The infantile form appears
to be inherited as an autosomal recessive trait. The adult form appears
to be autosomal dominant trait.
Symptoms:
Infantile:
Pronounced epicanthal folds (a vertical fold
of skin on either side of the nose)
Pointed nose
Small chin
Floppy, low set ears
Huge bilateral masses on the flanks.
Enlarged kidney
Adult :
Hypertension
Polyuria
Signs and symptoms of urinary tract infection
Lumbar pain
Widening girth, and swollen or tender abdomen
Hematuria
Life threatening retroperitoneal bleeding
Proteinuria
Colicky abdominal pain
Enlarged kidney
Diagnostic test:
Retrograde pyelography reveals enlarged kidneys,
with elongation of the pelvis, flattening of the calyces, and indentations
caused by cysts.
IVP: neonate shows poor excretion of contrast
medium
CT scan and ultrasound show kidney enlargement
and the presence of cysts
Urinalysis and creatinine clearance tests indicate
abnormalities.
Treatment:
Goal: to preserve the renal parenchyma and
avoid infection.
No known cure. Careful management of associated
urinary tract infections and secondary hypertension may prolong life.
Antibiotic therapy
Dialysis or kidney transplantation.
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